Genomics England
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Genes and Entities
SPINT2
serine peptidase inhibitor, Kunitz type 2
OMIM:
605124
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Panel
Mode of inheritance
Details
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Intestinal failure or congenital diarrhoea
R-numbers:
R331
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Diarrhea 3, secretory sodium, congenital, syndromic, OMIM:270420